SNP Links for Gene (Select 4160) - SNP

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Select item 14911695161.

rs1491169516 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 18:60373106 (GRCh38)
18:58040339 (GRCh37)
Canonical SPDI:: NC_000018.10:60373105:AT:
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.60373106_60373107del, NC_000018.9:g.58040339_58040340del, NG_016441.1:g.4662_4663del

Select item 14907027222.

rs1490702722 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:60371566 (GRCh38)
18:58038799 (GRCh37)
Canonical SPDI:: NC_000018.10:60371565:A:G
Gene:: MC4R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.60371566A>G, NC_000018.9:g.58038799A>G, NG_016441.1:g.6203T>C, NM_005912.3:c.784T>C, NM_005912.2:c.784T>C, NP_005903.2:p.Phe262Leu

Select item 14901741553.

rs1490174155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:60372617 (GRCh38)
18:58039850 (GRCh37)
Canonical SPDI:: NC_000018.10:60372616:C:G
Gene:: MC4R (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.60372617C>G, NC_000018.9:g.58039850C>G, NG_016441.1:g.5152G>C, NM_005912.3:c.-268G>C, NM_005912.2:c.-268G>C

Select item 14901487324.

rs1490148732 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:60371521 (GRCh38)
18:58038754 (GRCh37)
Canonical SPDI:: NC_000018.10:60371520:AA:
Gene:: MC4R (Varview)
Functional Consequence:: inframe_indel,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.60371521_60371522del, NC_000018.9:g.58038754_58038755del, NG_016441.1:g.6247_6248del, NM_005912.3:c.828_829del, NM_005912.2:c.828_829del, NP_005903.2:p.Tyr276_Cys277delinsTer

Select item 14900120595.

rs1490012059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:60373073 (GRCh38)
18:58040306 (GRCh37)
Canonical SPDI:: NC_000018.10:60373072:G:A
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.60373073G>A, NC_000018.9:g.58040306G>A, NG_016441.1:g.4696C>T

Select item 14889997006.

rs1488999700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:60372442 (GRCh38)
18:58039675 (GRCh37)
Canonical SPDI:: NC_000018.10:60372441:T:C
Gene:: MC4R (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.60372442T>C, NC_000018.9:g.58039675T>C, NG_016441.1:g.5327A>G, NM_005912.3:c.-93A>G, NM_005912.2:c.-93A>G

Select item 14882553317.

rs1488255331 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 18:60374219 (GRCh38)
18:58041452 (GRCh37)
Canonical SPDI:: NC_000018.10:60374218:TTTTT:TTTT
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000018.10:g.60374223del, NC_000018.9:g.58041456del, NG_016441.1:g.3550del

Select item 14880659258.

rs1488065925 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCTT>- [Show Flanks]
Chromosome:: 18:60373727 (GRCh38)
18:58040960 (GRCh37)
Canonical SPDI:: NC_000018.10:60373721:TTCTTTTCTT:TTCTT
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTTTTCTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.60373722TTCTT[1], NC_000018.9:g.58040955TTCTT[1], NG_016441.1:g.4038AAGAA[1]

Select item 14867838109.

rs1486783810 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:60372279 (GRCh38)
18:58039512 (GRCh37)
Canonical SPDI:: NC_000018.10:60372278:T:C
Gene:: MC4R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.60372279T>C, NC_000018.9:g.58039512T>C, NG_016441.1:g.5490A>G, NM_005912.3:c.71A>G, NM_005912.2:c.71A>G, NP_005903.2:p.His24Arg

Select item 148619242810.

rs1486192428 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:60371739 (GRCh38)
18:58038972 (GRCh37)
Canonical SPDI:: NC_000018.10:60371738:A:G
Gene:: MC4R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.60371739A>G, NC_000018.9:g.58038972A>G, NG_016441.1:g.6030T>C, NM_005912.3:c.611T>C, NM_005912.2:c.611T>C, NP_005903.2:p.Met204Thr

Select item 148582168411.

rs1485821684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:60372951 (GRCh38)
18:58040184 (GRCh37)
Canonical SPDI:: NC_000018.10:60372950:C:A,NC_000018.10:60372950:C:T
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.60372951C>A, NC_000018.10:g.60372951C>T, NC_000018.9:g.58040184C>A, NC_000018.9:g.58040184C>T, NG_016441.1:g.4818G>T, NG_016441.1:g.4818G>A

Select item 148537738312.

rs1485377383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:60371688 (GRCh38)
18:58038921 (GRCh37)
Canonical SPDI:: NC_000018.10:60371687:A:G
Gene:: MC4R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.60371688A>G, NC_000018.9:g.58038921A>G, NG_016441.1:g.6081T>C, NM_005912.3:c.662T>C, NM_005912.2:c.662T>C, NP_005903.2:p.Leu221Pro

Select item 148503438413.

rs1485034384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 18:60372413 (GRCh38)
18:58039646 (GRCh37)
Canonical SPDI:: NC_000018.10:60372412:C:A,NC_000018.10:60372412:C:T
Gene:: MC4R (Varview)
Functional Consequence:: 5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000354/6 (TOMMO)
HGVS:: NC_000018.10:g.60372413C>A, NC_000018.10:g.60372413C>T, NC_000018.9:g.58039646C>A, NC_000018.9:g.58039646C>T, NG_016441.1:g.5356G>T, NG_016441.1:g.5356G>A, NM_005912.3:c.-64G>T, NM_005912.3:c.-64G>A, NM_005912.2:c.-64G>T, NM_005912.2:c.-64G>A

Select item 148444118414.

rs1484441184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:60372984 (GRCh38)
18:58040217 (GRCh37)
Canonical SPDI:: NC_000018.10:60372983:T:A
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.60372984T>A, NC_000018.9:g.58040217T>A, NG_016441.1:g.4785A>T

Select item 148342546215.

rs1483425462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:60374137 (GRCh38)
18:58041370 (GRCh37)
Canonical SPDI:: NC_000018.10:60374136:A:G
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.60374137A>G, NC_000018.9:g.58041370A>G, NG_016441.1:g.3632T>C

Select item 148341897416.

rs1483418974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 18:60372250 (GRCh38)
18:58039483 (GRCh37)
Canonical SPDI:: NC_000018.10:60372249:C:A,NC_000018.10:60372249:C:G
Gene:: MC4R (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000018.10:g.60372250C>A, NC_000018.10:g.60372250C>G, NC_000018.9:g.58039483C>A, NC_000018.9:g.58039483C>G, NG_016441.1:g.5519G>T, NG_016441.1:g.5519G>C, NM_005912.3:c.100G>T, NM_005912.3:c.100G>C, NM_005912.2:c.100G>T, NM_005912.2:c.100G>C, NP_005903.2:p.Gly34Cys, NP_005903.2:p.Gly34Arg

Select item 148188087317.

rs1481880873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:60372753 (GRCh38)
18:58039986 (GRCh37)
Canonical SPDI:: NC_000018.10:60372752:G:A
Gene:: MC4R (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.60372753G>A, NC_000018.9:g.58039986G>A, NG_016441.1:g.5016C>T, NM_005912.3:c.-404C>T, NM_005912.2:c.-404C>T

Select item 148071260918.

rs1480712609 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 18:60373706 (GRCh38)
18:58040939 (GRCh37)
Canonical SPDI:: NC_000018.10:60373703:TATA:TA
Gene:: MC4R (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.60373704TA[1], NC_000018.9:g.58040937TA[1], NG_016441.1:g.4062TA[1]

Select item 148003482719.

rs1480034827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:60372698 (GRCh38)
18:58039931 (GRCh37)
Canonical SPDI:: NC_000018.10:60372697:A:G
Gene:: MC4R (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000018.10:g.60372698A>G, NC_000018.9:g.58039931A>G, NG_016441.1:g.5071T>C, NM_005912.3:c.-349T>C, NM_005912.2:c.-349T>C

Select item 147955866420.

rs1479558664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:60372702 (GRCh38)
18:58039935 (GRCh37)
Canonical SPDI:: NC_000018.10:60372701:A:T
Gene:: MC4R (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.60372702A>T, NC_000018.9:g.58039935A>T, NG_016441.1:g.5067T>A, NM_005912.3:c.-353T>A, NM_005912.2:c.-353T>A

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